(used for variant description)
(last modified July 4, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_007055.3 in the POLR3A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_029648.1, covering POLR3A transcript NM_007055.3.
(upstream sequence)
. g.5013
actctacggtggc c.-121
. . . . . . g.5073
cgagaggatgccgcagatgtgttagcggcgagtccagaagcagccccaggaggtgctggg c.-61
. . . . . . g.5133
ggcatcgtttctctaatctggcctcccgagtgccaaggaggcgtcccggcagcggtcatc c.-1
. . . . | 02 . . g.8327
ATGGTGAAGGAGCAGTTCCGGGAGACGGATGTGGCCAAGAAAAT | AAGCCACATCTGTTTT c.60
M V K E Q F R E T D V A K K I | S H I C F p.20
. . . . . . g.8387
GGAATGAAGTCACCTGAGGAGATGCGCCAGCAGGCGCACATCCAAGTTGTGAGTAAGAAC c.120
G M K S P E E M R Q Q A H I Q V V S K N p.40
. . . . . . g.8447
CTGTACAGCCAGGACAACCAACATGCCCCCTTGCTATATGGGGTGCTCGACCATAGGATG c.180
L Y S Q D N Q H A P L L Y G V L D H R M p.60
| 03 . . . . . . g.8841
| GGTACGAGTGAGAAGGATCGTCCATGTGAAACCTGTGGGAAAAACTTGGCTGACTGTCTA c.240
| G T S E K D R P C E T C G K N L A D C L p.80
. . . . . . g.8901
GGCCACTATGGGTATATCGACCTGGAGTTGCCGTGTTTTCATGTAGGGTACTTCAGAGCA c.300
G H Y G Y I D L E L P C F H V G Y F R A p.100
. | 04 . . . . g.9440
GTCATAGGCATCTTACAG | ATGATCTGCAAAACCTGCTGCCACATCATGCTGTCCCAAGAG c.360
V I G I L Q | M I C K T C C H I M L S Q E p.120
. . . . . . g.9500
GAGAAGAAGCAGTTTCTGGACTATCTAAAGAGGCCCGGCCTGACCTACCTTCAGAAGCGA c.420
E K K Q F L D Y L K R P G L T Y L Q K R p.140
. . . . . . g.9560
GGACTGAAAAAGAAAATCTCTGACAAGTGCCGGAAGAAAAACATCTGCCATCACTGTGGC c.480
G L K K K I S D K C R K K N I C H H C G p.160
. | 05 . . . . . g.9887
GCTTTTAATG | GTACCGTAAAGAAGTGTGGACTGCTGAAAATAATTCATGAGAAATACAAG c.540
A F N G | T V K K C G L L K I I H E K Y K p.180
. . . . . . g.9947
ACCAACAAAAAAGTGGTGGATCCCATTGTATCAAATTTCCTTCAGTCTTTTGAAACAGCC c.600
T N K K V V D P I V S N F L Q S F E T A p.200
. . . . | 06 . . g.12171
ATTGAACATAATAAAGAAGTGGAGCCTCTGCTGGGAAGGGCACAG | GAAAACTTGAATCCC c.660
I E H N K E V E P L L G R A Q | E N L N P p.220
. . . . . . g.12231
TTAGTAGTTCTGAATTTATTTAAACGAATCCCAGCTGAAGATGTTCCTCTACTTCTGATG c.720
L V V L N L F K R I P A E D V P L L L M p.240
. . . . . . g.12291
AACCCAGAAGCCGGAAAGCCGTCTGATTTGATTCTCACACGACTTTTGGTGCCTCCTTTG c.780
N P E A G K P S D L I L T R L L V P P L p.260
. . . . . . g.12351
TGTATCAGACCCTCCGTTGTGAGTGATTTGAAGTCTGGCACCAATGAAGATGATCTGACA c.840
C I R P S V V S D L K S G T N E D D L T p.280
. . . . | 07 . . g.12533
ATGAAACTGACAGAAATCATTTTCCTAAACGATGTTATTAAAAAG | CATCGGATCTCAGGA c.900
M K L T E I I F L N D V I K K | H R I S G p.300
. . . . . . g.12593
GCCAAGACCCAGATGATCATGGAGGACTGGGATTTCCTGCAGCTGCAGTGTGCCCTCTAC c.960
A K T Q M I M E D W D F L Q L Q C A L Y p.320
. . . . . . g.12653
ATTAACAGTGAGCTCTCGGGCATTCCCCTCAACATGGCACCCAAGAAGTGGACCAGAGGC c.1020
I N S E L S G I P L N M A P K K W T R G p.340
. . | 08 . . . g.12890
TTCGTCCAACGCCTGAAGGGAAAACAGG | GTCGATTTAGAGGAAATCTCTCAGGAAAGAGA c.1080
F V Q R L K G K Q G | R F R G N L S G K R p.360
. . . . . . g.12950
GTGGATTTTTCTGGCAGAACAGTCATCTCGCCCGACCCCAACCTCCGGATTGATGAGGTA c.1140
V D F S G R T V I S P D P N L R I D E V p.380
. . . . | 09 . . g.15290
GCTGTGCCAGTTCATGTGGCCAAAATTCTAACTTTTCCTGAGAAG | GTAAACAAAGCAAAC c.1200
A V P V H V A K I L T F P E K | V N K A N p.400
. . . . . . g.15350
ATCAATTTCTTGAGGAAACTGGTTCAAAACGGCCCTGAGGTTCACCCAGGAGCAAACTTC c.1260
I N F L R K L V Q N G P E V H P G A N F p.420
. . | 10 . . . g.16855
ATTCAGCAGAGACATACGCAGATGAAAAG | GTTTTTGAAATACGGAAATCGAGAAAAGATG c.1320
I Q Q R H T Q M K R | F L K Y G N R E K M p.440
. . . . . . g.16915
GCTCAAGAGCTCAAGTATGGTGACATCGTAGAGAGACACCTCATCGATGGAGATGTGGTG c.1380
A Q E L K Y G D I V E R H L I D G D V V p.460
. . . . . | 11 . g.20759
CTGTTCAATCGGCAGCCCTCGCTGCACAAATTGAGCATTATGGCTCATCTG | GCCAGGGTC c.1440
L F N R Q P S L H K L S I M A H L | A R V p.480
. . . . . . g.20819
AAGCCCCACCGGACCTTCAGATTTAATGAGTGTGTCTGTACACCCTATAATGCTGACTTT c.1500
K P H R T F R F N E C V C T P Y N A D F p.500
. . . . . . g.20879
GATGGTGATGAAATGAACCTTCATCTTCCTCAAACAGAAGAAGCTAAAGCAGAGGCCCTT c.1560
D G D E M N L H L P Q T E E A K A E A L p.520
. | 12 . . . . . g.24048
GTTCTGATGGGG | ACTAAAGCAAATCTTGTAACCCCGAGGAATGGGGAACCGCTGATTGCT c.1620
V L M G | T K A N L V T P R N G E P L I A p.540
. . | 13 . . . . g.24587
GCTATTCAGGATTTTCTAACAG | GTGCCTATCTCCTCACTCTCAAGGACACTTTCTTTGAT c.1680
A I Q D F L T G | A Y L L T L K D T F F D p.560
. . . . . . g.24647
CGAGCCAAGGCTTGCCAAATCATTGCTTCAATACTGGTTGGCAAGGATGAGAAAATTAAA c.1740
R A K A C Q I I A S I L V G K D E K I K p.580
. . . | 14 . . . g.24895
GTTCGCCTCCCACCGCCTACAATCCTAAAG | CCTGTCACCCTGTGGACGGGAAAGCAGATC c.1800
V R L P P P T I L K | P V T L W T G K Q I p.600
. . . . . . g.24955
TTCAGTGTCATCCTCAGGCCTAGCGATGACAATCCAGTGAGGGCCAACCTGCGAACCAAG c.1860
F S V I L R P S D D N P V R A N L R T K p.620
. . . . | 15 . g.26685
GGCAAGCAGTACTGTGGCAAAGGGGAAGATCTCTGTGCCAATGATTCCT | ATGTTACAATC c.1920
G K Q Y C G K G E D L C A N D S Y | V T I p.640
. . . . . . g.26745
CAGAACAGTGAGTTGATGAGTGGCAGCATGGACAAAGGAACCCTAGGGTCAGGATCCAAG c.1980
Q N S E L M S G S M D K G T L G S G S K p.660
. . . . . . g.26805
AACAATATTTTTTACATTTTGCTGCGAGACTGGGGACAGAATGAAGCTGCAGATGCCATG c.2040
N N I F Y I L L R D W G Q N E A A D A M p.680
. . . | 16 . . . g.29678
TCACGGCTCGCCAGGCTGGCTCCTGTCTACCTGT | CTAACCGTGGTTTCTCAATTGGGATC c.2100
S R L A R L A P V Y L S | N R G F S I G I p.700
. . . . . . g.29738
GGTGATGTCACACCTGGCCAAGGACTGCTGAAGGCCAAGTATGAGTTGCTGAATGCCGGC c.2160
G D V T P G Q G L L K A K Y E L L N A G p.720
. . . . . . g.29798
TACAAGAAATGTGATGAGTACATCGAAGCCCTGAACACGGGCAAGCTGCAGCAGCAGCCT c.2220
Y K K C D E Y I E A L N T G K L Q Q Q P p.740
. . | 17. . . . g.32265
GGCTGCACTGCTGAGGAGACCCTGGAG | GCACTGATCCTGAAGGAGCTGTCTGTGATCCGT c.2280
G C T A E E T L E | A L I L K E L S V I R p.760
. . . . . . g.32325
GACCACGCTGGCAGTGCCTGCCTCCGGGAGCTGGACAAGAGCAACAGCCCCCTCACCATG c.2340
D H A G S A C L R E L D K S N S P L T M p.780
. | 18 . . . . g.33487
GCTCTGTGCGGCTCCAAAG | GTTCCTTCATTAACATATCACAGATGATTGCCTGTGTGGGA c.2400
A L C G S K G | S F I N I S Q M I A C V G p.800
. . . . . . g.33547
CAGCAGGCCATCAGTGGCTCTCGAGTGCCAGACGGCTTTGAAAACAGGTCCTTGCCTCAT c.2460
Q Q A I S G S R V P D G F E N R S L P H p.820
. | 19 . . . . g.34464
TTTGAAAAACACTCAAAG | CTCCCAGCTGCCAAAGGCTTTGTGGCTAATAGCTTTTATTCC c.2520
F E K H S K | L P A A K G F V A N S F Y S p.840
. . . . . . g.34524
GGTTTGACACCAACTGAGTTTTTCTTCCACACAATGGCCGGCCGGGAAGGTCTAGTCGAC c.2580
G L T P T E F F F H T M A G R E G L V D p.860
. . . | 20 . . . g.41197
ACGGCTGTAAAGACAGCTGAAACGGGATACATGCAG | CGAAGGCTTGTCAAATCTCTTGAA c.2640
T A V K T A E T G Y M Q | R R L V K S L E p.880
. . . . . . g.41257
GATCTTTGCTCCCAGTATGATCTGACAGTCCGAAGCTCTACTGGCGATATTATCCAGTTC c.2700
D L C S Q Y D L T V R S S T G D I I Q F p.900
. . . . . . g.41317
ATTTATGGAGGAGATGGCTTAGATCCTGCAGCTATGGAGGGAAAAGATGAACCTTTGGAG c.2760
I Y G G D G L D P A A M E G K D E P L E p.920
. . | 21. . . . g.43406
TTTAAAAGGGTTCTGGACAACATCAAA | GCAGTCTTCCCGTGTCCCAGTGAGCCTGCTCTC c.2820
F K R V L D N I K | A V F P C P S E P A L p.940
. . . . . . g.43466
AGCAAAAACGAGCTGATCCTGACCACAGAGTCCATCATGAAGAAGAGTGAGTTCCTCTGC c.2880
S K N E L I L T T E S I M K K S E F L C p.960
. . | 22 . . . . g.48420
TGCCAGGACAGCTTCCTGCAG | GAAATAAAAAAATTCATTAAGGGGGTCTCTGAGAAGATC c.2940
C Q D S F L Q | E I K K F I K G V S E K I p.980
. . . . | 23 . g.48567
AAGAAAACCAGAGATAAATATGGCATCAATGATAACGGCACAACAGAG | CCCCGTGTGCTG c.3000
K K T R D K Y G I N D N G T T E | P R V L p.1000
. . . . . . g.48627
TACCAGCTGGACCGCATCACCCCCACCCAAGTAGAAAAGTTTCTGGAGACCTGTAGGGAC c.3060
Y Q L D R I T P T Q V E K F L E T C R D p.1020
. | 24 . . . . . g.49249
AAGTACATGAG | GGCACAGATGGAGCCAGGTTCTGCAGTGGGTGCTCTGTGTGCCCAGAGC c.3120
K Y M R | A Q M E P G S A V G A L C A Q S p.1040
. . . . . . g.49309
ATTGGTGAGCCAGGCACCCAGATGACCCTGAAGACTTTCCACTTTGCAGGTGTGGCCTCC c.3180
I G E P G T Q M T L K T F H F A G V A S p.1060
. . . . . . g.49369
ATGAACATCACCCTGGGCGTGCCCCGGATTAAAGAGATCATCAACGCTTCCAAGGCCATC c.3240
M N I T L G V P R I K E I I N A S K A I p.1080
| 25 . . . . . . g.50300
AG | CACTCCAATTATCACAGCACAGCTAGACAAGGATGACGACGCGGATTATGCTCGCCTC c.3300
S | T P I I T A Q L D K D D D A D Y A R L p.1100
. . . | 26 . . . g.50552
GTGAAAGGGAGAATTGAGAAAACCCTCTTGGGAGAG | ATTTCCGAGTATATTGAAGAAGTG c.3360
V K G R I E K T L L G E | I S E Y I E E V p.1120
. . . . . . g.50612
TTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTG c.3420
F L P D D C F I L V K L S L E R I R L L p.1140
| 27 . . . . . g.51774
AGACTGGAA | GTGAACGCTGAGACAGTGAGATATTCCATCTGCACATCCAAGCTCCGTGTG c.3480
R L E | V N A E T V R Y S I C T S K L R V p.1160
. . . . . . g.51834
AAGCCCGGTGATGTGGCTGTTCATGGTGAGGCTGTGGTGTGTGTCACCCCCAGAGAGAAC c.3540
K P G D V A V H G E A V V C V T P R E N p.1180
. . . . . | 28 . g.52228
AGCAAGAGCTCCATGTACTACGTGCTGCAGTTCCTGAAAGAGGATCTCCCCAAG | GTGGTG c.3600
S K S S M Y Y V L Q F L K E D L P K | V V p.1200
. . . . . . g.52288
GTGCAGGGCATTCCAGAGGTGTCCAGAGCTGTCATCCACATTGACGAGCAGAGTGGAAAG c.3660
V Q G I P E V S R A V I H I D E Q S G K p.1220
. . . . . . g.52348
GAGAAGTACAAGCTTCTGGTGGAAGGTGATAACCTGCGGGCAGTCATGGCCACACACGGT c.3720
E K Y K L L V E G D N L R A V M A T H G p.1240
. . . | 29 . . g.53002
GTGAAGGGCACCCGAACCACCTCCAATAACACCTATGAG | GTGGAGAAAACTCTGGGCATC c.3780
V K G T R T T S N N T Y E | V E K T L G I p.1260
. . . . . . g.53062
GAGGCCGCCCGGACAACGATCATCAATGAAATCCAGTACACCATGGTGAACCACGGCATG c.3840
E A A R T T I I N E I Q Y T M V N H G M p.1280
. . . . . | 30 . g.54276
AGCATCGACAGGAGGCACGTGATGCTGCTCTCCGACCTCATGACCTACAAG | GGTGAAGTC c.3900
S I D R R H V M L L S D L M T Y K | G E V p.1300
. . . . . . g.54336
CTGGGCATCACTAGGTTTGGCCTGGCCAAGATGAAGGAGAGTGTGCTGATGCTGGCCTCC c.3960
L G I T R F G L A K M K E S V L M L A S p.1320
. . . . . . g.54396
TTTGAGAAGACGGCTGACCATCTCTTTGACGCTGCCTACTTCGGGCAGAAGGACTCTGTG c.4020
F E K T A D H L F D A A Y F G Q K D S V p.1340
| 31 . . . . . . g.56970
TGTG | GGGTGTCTGAGTGCATCATCATGGGAATCCCAATGAACATTGGAACCGGGCTCTTC c.4080
C G | V S E C I I M G I P M N I G T G L F p.1360
. . . . . . g.57030
AAGCTGCTTCACAAGGCTGACAGGGACCCGAACCCTCCCAAGAGGCCCCTGATCTTCGAC c.4140
K L L H K A D R D P N P P K R P L I F D p.1380
. . . g.57063
ACAAATGAATTCCACATCCCCCTTGTCACATAG c.4173
T N E F H I P L V T X p.1390
. . . . . . g.57123
tccaaagaaagaggggaccatgcctgaccttgactccttgtcctgtctccagctgatgta c.*60
. . . . . . g.57183
taaagagttttgtgctccctgggacgggggtcctgaggtccccacctatgccagcaatca c.*120
. . . . . . g.57243
gagaagccctcttggcatccccaggagcagcttctcctctgatagggtgcagctcacacc c.*180
. . . . . . g.57303
agtgaccctgactgtgccacgctgctcgggagagctgagggttttattgtttgcttgctt c.*240
. . . . . . g.57363
gaaacctaatctatagacggccccacagctcgtgcacacactgcttccctggacttaaag c.*300
. . . . . . g.57423
cccagccaggtgtcatggtccatcccagctcactgcatacatccatcggctccccatggt c.*360
. . . . . . g.57483
gtcttcacacctgacgatgagccaggcctgagccccacacaggccagggcacattcttgg c.*420
. . . . . . g.57543
attttccattccttggtcatgctggaatctctcaatgtgacatacttatgtaaatattgt c.*480
. . . . . . g.57603
tactattatttatttgttccatttgagggatttggaatttttgttattttagttttattt c.*540
. . . . . . g.57663
ttgaaaccaagcatctatagaaaccaagaaagtcagcatgtaagcgtcactggaaaaact c.*600
. . . . . . g.57723
ggtttaagcaaatagagccgtctgggatttgtaactgaggtgcaactgtcatgaggccca c.*660
. . . . . . g.57783
ggcagctctgtaacatcttctatagatgcccctggctaccctgttgttttcatctacctc c.*720
. . . . . . g.57843
agacccctatcatggggctctaccctgtgacaagagccaaacccattctccatggcctat c.*780
. . . . . . g.57903
ggaagcctcactggagtttggggcctgctgcaatggggatgagatggttttttgtagaat c.*840
. . . . . . g.57963
tatacttacgttccttggatgatctctagttgattttttaagttctgagttgatgctgtt c.*900
. . . . . . g.58023
aaggtacccggggtagccattggttcttggatctgtgttagaatgagtgctttcccttcc c.*960
. . . . . . g.58083
tactgatgtgattgtggattaggaattcgtgaccgagtgatttttggccagtggttgggt c.*1020
. . . . . . g.58143
ttaaaattctattaaaatttgtagtttgggctgggtgctgtggctcatacctataatccc c.*1080
. . . . . . g.58203
agcactttgggaggccgaggggggcagatcacttgagcccaggagttcgagagcagcctg c.*1140
. . . . . . g.58263
ggcaacatgacgaaaccccgtctctacagagaatacaaaaattagccaggcatggtggcc c.*1200
. . . . . . g.58323
catgcctgtagtacctgctattggtaaggctgaggtggaaggttcacttgagcctgggag c.*1260
. . . . . . g.58383
gtggaggttgtagtgagccaagatcgtgccactacactccagcctgggcaacaaagcaag c.*1320
. . . . . . g.58443
accttgtctcaaaaaaaaaaaagaaaaaaattaagcgtaaaaaaaaattagtttttataa c.*1380
. . . . . . g.58503
aaaattatagtttgaccttttgatttccctgcatctacaaggtagacctattaacttctc c.*1440
. . . . . . g.58563
ttggggtatcagtgatgtggaaaaaaaatgccatttttcttaatgtttaaccccccttta c.*1500
. . . . . . g.58623
tctttgaattgagctagagcctggtttaggacaaaggattaagtttgttaatgaacacta c.*1560
. . . . . . g.58683
attcagggcttctacttgagaccccaccgagatcaccagttctcatgtaacctgggaaga c.*1620
. . . . . . g.58743
gccataaaggggtaccccccaccccaactgccttcctggaagcatgcctgggaagtaagc c.*1680
. . . . . . g.58803
tgtaggcctgatccgagccaggaccactgggatccgtgcaaaggccaggggagggtagaa c.*1740
. . . . . . g.58863
ttgaatcataggagtgaactccggcacctgttgtcttctgcgggtgacgcacactttaaa c.*1800
. . . . . . g.58923
tggaagagaggttgtggctataacttgtggctgggaataataaagatggcaccgccaagg c.*1860
. . . . . . g.58983
agcctcaccttgcgtgagtgagtactcagttgggcgctgcagggtctggagtctgtgtga c.*1920
. . . . . . g.59043
gacgtgtgtgattgtgatgggtgcgaatcagcgtatagcacttgagaacaaggcagacct c.*1980
. . . . . . g.59103
tggagcagaatggttatgtgaaggatcacatcacccatgggtagggggggaagtcatacg c.*2040
. . . . . . g.59163
tcctggaggtgctggtcctcctcctggaactgccagccttgctaggactatcaacatcaa c.*2100
. . . . . . g.59223
cagcattgcctggtaaaccctactgtttgtgctccccactgtgtcccatgactggtgtta c.*2160
. . . . . . g.59283
aaattctccctactttgatcatctgccctgcccaggccttgggctttatgccagcacaga c.*2220
. . . . . . g.59343
gctcaaaggccaggtagcagcacatcctcaagcatgagagctcaaagggttacatttgag c.*2280
. . . . g.59392
tctctgtacctgcttggaagaaataaaaatacgtgtgaattccatctca c.*2329
(downstream sequence)
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